相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
Jessica J. Y. Lee et al.
GENETICS IN MEDICINE (2018)
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra
Jan Vaclavik et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
ReconMap: an interactive visualization of human metabolism
Alberto Noronha et al.
BIOINFORMATICS (2017)
KEGG: new perspectives on genomes, pathways, diseases and drugs
Minoru Kanehisa et al.
NUCLEIC ACIDS RESEARCH (2017)
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity
Marisa I. Mendes et al.
HUMAN MUTATION (2017)
Tailored liquid chromatography-mass spectrometry analysis improves the coverage of the intracellular metabolome of HepaRG cells
Matthias Cuykx et al.
JOURNAL OF CHROMATOGRAPHY A (2017)
Metabolic phenotyping of mucopolysaccharidoses using untargeted liquid chromatography ion mobility mass spectrometry-based strategy
Abdellah Tebani et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
Tao Long et al.
NATURE GENETICS (2017)
Clinical Metabolomics to Segregate Aromatic Amino Acid Decarboxylase Deficiency From Drug-Induced Metabolite Elevations
Kirk L. Pappan et al.
PEDIATRIC NEUROLOGY (2017)
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
Lucia Abela et al.
PLOS ONE (2017)
Molecular identification in metabolomics using infrared ion spectroscopy
Jonathan Martens et al.
SCIENTIFIC REPORTS (2017)
Sparse statistical health monitoring: A novel variable selection approach to diagnosis and follow-up of individual patients
J. Engel et al.
CHEMOMETRICS AND INTELLIGENT LABORATORY SYSTEMS (2017)
N-8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics
Lucia Abela et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2016)
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Clara D. M. van Karnebeek et al.
NATURE GENETICS (2016)
Metabolomics: beyond biomarkers and towards mechanisms
Caroline H. Johnson et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2016)
Exome Sequencing and the Management of Neurometabolic Disorders
M. Tarailo-Graovac et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
An exome array study of the plasma metabolome
Eugene P. Rhee et al.
NATURE COMMUNICATIONS (2016)
Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era
Abdellah Tebani et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2016)
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Marcus J. Miller et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health
Lining Guo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Untargeted urine metabolomics reveals a biosignature for muscle respiratory chain deficiencies
Leonie Venter et al.
METABOLOMICS (2015)
Towards the Disease Biomarker in an Individual Patient Using Statistical Health Monitoring
Jasper Engel et al.
PLOS ONE (2014)
A community-driven global reconstruction of human metabolism
Ines Thiele et al.
NATURE BIOTECHNOLOGY (2013)
Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach
Izelle Smuts et al.
METABOLOMICS (2013)
Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach
Marli Dercksen et al.
METABOLOMICS (2013)
NMR-based metabolomics in human disease diagnosis: applications, limitations, and recommendations
Abdul-Hamid M. Emwas et al.
METABOLOMICS (2013)
Metabonomics of Newborn Screening Dried Blood Spot Samples: A Novel Approach in the Screening and Diagnostics of Inborn Errors of Metabolism
Julia Denes et al.
ANALYTICAL CHEMISTRY (2012)
Disease gene identification strategies for exome sequencing
Christian Gilissen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria
Hava Peretz et al.
METABOLOMICS (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
On the future of omics: lipidomics
William J. Griffiths et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Procedures for large-scale metabolic profiling of serum and plasma using gas chromatography and liquid chromatography coupled to mass spectrometry
Warwick B. Dunn et al.
NATURE PROTOCOLS (2011)
Metabolomics identifies perturbations in human disorders of propionate metabolism
William R. Wikoff et al.
CLINICAL CHEMISTRY (2007)
Proposed minimum reporting standards for chemical analysis
Lloyd W. Sumner et al.
METABOLOMICS (2007)
HMDB: the human metabolome database
David S. Wishart et al.
NUCLEIC ACIDS RESEARCH (2007)